Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma

Clinical Genetics

Volumn 84, Issue 2, 2013, Pages 167-174

  Wiggs, J L ^a   Howell, G R ^b   Linkroum, K ^a   Abdrabou, W ^a   Hodges, E ^c   Braine, C E ^b   Pasquale, L R ^a   Hannon, G J ^c   Haines, J L ^d   John, S W M ^b,c  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b JACKSON LABORATORY   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Collagen; Glaucoma; Modifying gene; Myocilin

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ASTROCYTE; CILIARY BODY; COL15A1 GENE; FEMALE; GENE; GENE EXPRESSION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOUSE; NERVE CELL; NONHUMAN; ONSET AGE; OPEN ANGLE GLAUCOMA; OPTIC NERVE; PEDIGREE; PRIORITY JOURNAL;

COLLAGEN; GLAUCOMA; MODIFYING GENE; MYOCILIN;

ADULT; AGE OF ONSET; AGED; ANIMALS; COLLAGEN; COLLAGEN TYPE XVIII; EXONS; FEMALE; GENETIC VARIATION; GENOTYPE; GLAUCOMA, OPEN-ANGLE; HUMANS; MALE; MICE; MIDDLE AGED; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84880141794     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12176     Document Type: Article

References (40)

1. Fan BJ, Wiggs JL. Glaucoma: genes, phenotypes, and new directions for therapy. J Clin Invest 2010: 120 (9): 3064-3072.
2. Wiggs JL, Allingham RR, Vollrath D et al. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet 1998: 63 (5): 1549-1552.
3. Fingert JH, Héon E, Liebmann JM et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999: 8 (5): 899-905.
4. Angius A, Spinelli P, Ghilotti G et al. Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma. Arch Ophthalmol 2000: 118 (5): 674-679.
5. Allingham RR, Wiggs JL, De La Paz MA et al. Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 1998: 39 (12): 2288-2295.
6. Fingert JH, Stone EM, Sheffield VC. Alward WL. Surv Ophthalmol 2002: 47 (6): 547-561.
7. Vincent AL, Billingsley G, Buys Y et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002: 70 (2): 448-460.
8. Craig JE, Baird PN, Healey DL et al. Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. Ophthalmology 2001: 108 (9): 1607-1620.
9. Wiggs JL, Lynch S, Ynagi G et al. A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12. Am J Hum Genet 2004: 74 (6): 1314-1320.
10. Hodges E, Smith AD, Kendall J et al. High definition profiling of mammalian DNA methylation by array capture and single molecule bisulfite sequencing. Genome Res 2009: 19 (9): 1593-1605.
11. Li H, Handsaker B, Wysoker A et al. 1000 genome project data processing subgroup. The sequence alignment/Map format and SAMtools. Bioinformatics 2009: 25 (16): 2078-2079.
12. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009: 25 (14): 1754-1760.
13. Adzhubei IA, Schmidt S, Peshkin L et al. A method and server for predicting damaging missense mutations. Nat Methods 2010: 7 (4): 248-249.
14. Ng PC, Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 2006: 7: 61-80.
15. Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 2012: 40 (Web Server issue): W452-W457.
16. Ferrer-Costa C, Gelpí JL, Zamakola L, Parraga I, de la Cruz X, Orozco M. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 2005: 21 (14): 3176-3178.
17. Howell GR, Macalinao DG, Sousa GL et al. Molecular clustering identifies complement and endothelin induction as early events in a mouse model of glaucoma. J Clin Invest 2011: 121 (4): 1429-1444.
18. Liton PB, Liu X, Stamer WD, Challa P, Epstein DL, Gonzalez P. Specific targeting of gene expression to a subset of human trabecular meshwork cells using the chitinase 3-like 1 promoter. Invest Ophthalmol Vis Sci 2005: 46 (1): 183-190.
19. Hägg PM, Muona A, Liétard J, Kivirikko S, Pihlajaniemi T. Complete exon-intron organization of the human gene for the alpha1 chain of type XV collagen (COL15A1) and comparison with the homologous COL18A1 gene. J Biol Chem 1998: 273 (28): 17824-17831.
20. Li D, Clark CC, Myers JC. Basement membrane zone type XV collagen is a disulfide-bonded chondroitin sulfate proteoglycan in human tissues and cultured cells. J Biol Chem 2000: 275 (29): 22339-22347.
21. Iozzo RV. Basement membrane proteoglycans: from cellar to ceiling. Nat Rev Mol Cell Biol 2005: 6 (8): 646-656.
22. Rasi K, Piuhola J, Czabanka M et al. Collagen XV is necessary for modeling of the extracellular matrix and its deficiency predisposes to cardiomyopathy. Circ Res 2010: 107 (10): 1241-1252.
23. Nicolae C, Olsen BR. Unexpected matrix diseases and novel therapeutic strategies. Cell Tissue Res 2010: 339 (1): 155-165.
24. Määttä M, Heljasvaara R, Sormunen R, Pihlajaniemi T, Autio-Harmainen H, Tervo T. Differential expression of collagen types XVIII/endostatin and XV in normal, keratoconus, and scarred human corneas. Cornea 2006: 25 (3): 341-349.
25. Hurskainen M, Eklund L, Hägg PO et al. Abnormal maturation of the retinal vasculature in type XVIII collagen/endostatin deficient mice and changes in retinal glial cells due to lack of collagen types XV and XVIII. FASEB J 2005: 19 (11): 1564-1566.
26. Seppinen L, Pihlajaniemi T. The multiple functions of collagen XVIII in development and disease. Matrix Biol 2011: 30 (2): 83-92.
27. Menzel O, Bekkeheien RC, Reymond A et al. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat 2004: 23 (1): 77-84.
28. Marneros AG, She H, Zambarakji H et al. Endogenous endostatin inhibits choroidal neovascularization. FASEB J 2007: 21 (14): 3809-3818.
29. Digtyar AV, Pozdnyakova NV, Feldman NB, Lutsenko SV, Severin SE. Endostatin: current concepts about its biological role and mechanisms of action. Biochemistry (Mosc) 2007: 72 (3): 235-246.
30. Ylikärppä R, Eklund L, Sormunen R et al. Double knockout mice reveal a lack of major functional compensation between collagens XV and XVIII. Matrix Biol 2003: 22 (5): 443-448.
31. Fan BJ, Leung DY, Wang DY et al. Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma. Arch Ophthalmol 2006: 124 (1): 102-106.
32. Kwon YH, Fingert JH, Kuehn MH, Alward WL. Primary open-angle glaucoma. N Engl J Med 2009: 360 (11): 1113-1124.
33. Zode GS, Kuehn MH, Nishimura DY et al. Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. J Clin Invest 2011: 121 (9): 3542-3553.
34. Liu Y, Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet 2004: 13 (11): 1193-1204.
35. Zhou Z, Vollrath D. A cellular assay distinguishes normal and mutant TIGR/myocilin protein. Hum Mol Genet 1999: 8 (12): 2221-2228.
36. Aroca-Aguilar JD, Sánchez-Sánchez F, Martínez-Redondo F, Coca-Prados M, Escribano J. Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin. Mol Vis 2008: 14: 2097-2108.
37. Sommer A, Tielsch JM, Katz J et al. Relationship between intraocular pressure and primary open angle glaucoma among white and black Americans. The Baltimore Eye Survey. Arch Ophthalmol 1991: 109 (8): 1090-1095.
38. Klebe S, Golmard JL, Nalls MA et al. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. J Neurol Neurosurg Psychiatry 2013: 84 (6): 666-673.
39. Tang ST, Peng WJ, Wang CJ, Tang HQ, Zhang Q. Polymorphism M55V in gene encoding small ubiquitin-like modifier 4 (SUMO4) protein associates with susceptibility to type 1 (and type 2) diabetes. Diabetes Metab Res Rev 2012: 28 (8): 679-687.
40. Valenti L, Fracanzani AL, Rametta R et al. Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis. J Hepatol 2012: 57 (6): 1319-1325.